Article
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
Prenatal diagnosis - 1 Jul 1995
Krook A, Bell J A, Robertson M E, Brueton L, O'Rahilly S
Abstract excerpt
We report on the prenatal diagnosis of a fetus at risk of leprechaunism. We had previously determined the nature of the causative mutation in the insulin receptor gene in this family. The mutation removes a restriction site for the enzyme Mbo II. Genomic DNA was extracted from a chorionic villus...
Topics
- Chorionic Villi
- DNA
- Exons
- Female
- Growth Disorders
- Humans
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Receptor, Insulin